Canonical Allele Identifier: CA397724366

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 3233512
• ClinVar RCV Id: RCV004526362
• gnomAD v4: 17-7223161-T-G
• MyVariant Identifiers: chr17:g.7126480T>G (hg19) ; chr17:g.7223161T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223161T>G , CM000679.2:g.7223161T>G	GRCh38
NC_000017.10:g.7126480T>G , CM000679.1:g.7126480T>G	GRCh37
NC_000017.9:g.7067204T>G	NCBI36
NG_007975.1:g.8328T>G
NG_008391.2:g.1890A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1106T>G MANE Select	ENSP00000349297.5:p.Phe369Cys
ENST00000322910.9:c.*1061T>G	ENSP00000325395.5:n.*1061T>G
ENST00000350303.9:c.1040T>G	ENSP00000344152.5:p.Phe347Cys
ENST00000356839.9:c.1106T>G	ENSP00000349297.5:p.Phe369Cys
ENST00000543245.6:c.1175T>G	ENSP00000438689.2:p.Phe392Cys
ENST00000578579.2:n.55T>G
ENST00000578824.5:n.522T>G
ENST00000579425.5:n.130T>G
ENST00000582379.1:n.757T>G
ENST00000583858.5:c.135T>G
ENST00000585203.6:n.314T>G
NM_000018.3:c.1106T>G	NP_000009.1:p.Phe369Cys
NM_001033859.2:c.1040T>G	NP_001029031.1:p.Phe347Cys
NM_001270447.1:c.1175T>G	NP_001257376.1:p.Phe392Cys
NM_001270448.1:c.878T>G	NP_001257377.1:p.Phe293Cys
XM_006721516.2:c.1106T>G	XP_006721579.2:p.Phe369Cys
XM_011523829.1:c.1106T>G	XP_011522131.1:p.Phe369Cys
XM_011523830.1:c.1106T>G	XP_011522132.1:p.Phe369Cys
XR_934021.1:n.1213T>G
XR_934022.1:n.1213T>G
XR_934023.1:n.1213T>G
XM_006721516.3:c.1106T>G	XP_006721579.2:p.Phe369Cys
XM_011523829.2:c.1106T>G	XP_011522131.1:p.Phe369Cys
XM_011523830.2:c.1106T>G	XP_011522132.1:p.Phe369Cys
XM_024450741.1:c.1106T>G	XP_024306509.1:p.Phe369Cys
XR_934021.2:n.1165T>G
XR_934022.2:n.1165T>G
XR_934023.2:n.1165T>G
NM_000018.4:c.1106T>G MANE Select	NP_000009.1:p.Phe369Cys
NM_001033859.3:c.1040T>G	NP_001029031.1:p.Phe347Cys
NM_001270447.2:c.1175T>G	NP_001257376.1:p.Phe392Cys
NM_001270448.2:c.878T>G	NP_001257377.1:p.Phe293Cys